Variant report

Variant	rs1488668
Chromosome Location	chr11:45505413-45505414
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10160472	0.88[EUR][1000 genomes]
rs10160502	0.88[EUR][1000 genomes]
rs10160694	0.88[EUR][1000 genomes]
rs10160834	0.88[EUR][1000 genomes]
rs10501315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10838454	0.88[EUR][1000 genomes]
rs10838455	0.88[EUR][1000 genomes]
rs10838479	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038403	0.82[EUR][1000 genomes]
rs11038404	0.86[EUR][1000 genomes]
rs11038405	0.86[EUR][1000 genomes]
rs11038406	0.88[EUR][1000 genomes]
rs11038409	0.86[EUR][1000 genomes]
rs11038411	0.88[EUR][1000 genomes]
rs11038417	0.88[EUR][1000 genomes]
rs11038420	0.88[EUR][1000 genomes]
rs11038423	0.88[EUR][1000 genomes]
rs11038424	0.88[EUR][1000 genomes]
rs11038426	0.88[EUR][1000 genomes]
rs11038427	0.88[EUR][1000 genomes]
rs11038429	0.91[EUR][1000 genomes]
rs11038431	0.95[EUR][1000 genomes]
rs11038432	0.95[EUR][1000 genomes]
rs11038433	0.95[EUR][1000 genomes]
rs11038434	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038435	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038436	0.83[AMR][1000 genomes]
rs11038437	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038442	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038443	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038444	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038450	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038451	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038455	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038456	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038457	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038458	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038459	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038461	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038462	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038465	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038466	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038467	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038469	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038471	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038472	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038474	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038475	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038477	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038479	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038481	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038482	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038485	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038491	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038496	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038510	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11038515	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038516	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038518	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038520	0.91[EUR][1000 genomes]
rs11038522	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1107209	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11599949	0.86[EUR][1000 genomes]
rs11599993	0.86[EUR][1000 genomes]
rs11601006	0.88[EUR][1000 genomes]
rs11601410	0.88[EUR][1000 genomes]
rs11604510	0.88[EUR][1000 genomes]
rs12278000	0.88[EUR][1000 genomes]
rs12360696	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12361372	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12363740	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12364278	0.98[EUR][1000 genomes]
rs12364661	0.98[EUR][1000 genomes]
rs12365374	0.88[EUR][1000 genomes]
rs12365430	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12365455	0.88[EUR][1000 genomes]
rs12365467	0.88[EUR][1000 genomes]
rs12365982	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12366014	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1488669	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1488670	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17723819	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17724032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17724086	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17785901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17786039	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1844150	0.98[EUR][1000 genomes]
rs2044877	0.90[EUR][1000 genomes]
rs72893316	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72893332	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72893337	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72893356	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72897413	0.88[EUR][1000 genomes]
rs72897414	0.88[EUR][1000 genomes]
rs72897422	0.88[EUR][1000 genomes]
rs72897428	0.88[EUR][1000 genomes]
rs72897458	0.88[EUR][1000 genomes]
rs72897475	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72899452	0.85[EUR][1000 genomes]
rs72899480	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72899488	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901403	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901426	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901447	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901450	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901459	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901500	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903086	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903094	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72905021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905092	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906947	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs971897	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1053919	chr11:45457920-45506491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv541027	chr11:45457920-45506491	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1488668	HEBP2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45490200-45510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:45503200-45506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:45504200-45506000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:45505000-45510800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:45505400-45506600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:45505400-45507600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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